Fragile X Syndrome(2009). Incidence of fragile X syndrome by newborn screening for methylated FMR1...
Transcript of Fragile X Syndrome(2009). Incidence of fragile X syndrome by newborn screening for methylated FMR1...
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Fragile X Syndrome
In the Academic World
Christina Aguirre-Kolb, LEP, ABSNP
Elyse Schoenwald, CPNP, MSN
Stramski Children’s Developmental Center Outpatient Clinic
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Stramski Children’s
Developmental Center Miller Children’s Hospital Long Beach
Memorial Care Health System
Clinics offered:
International Adoption Program
High Risk Infant Follow-up Program
Craniofacial Program
Genetic Program
Sleep Program
Behavioral and Neurodevelopmental Program
Fragile X Program
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Stramski Children’s
Developmental Center Why?
“Knowledge and Perceptions About Fragile X Syndrome: Implications for Diagnosis, Implications and Research”
- Brenda Finucane, Barbara Haas-Givler, and Elliot Simon
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Leading known cause of inherited intellectual
disabilities
30% individuals with FXS are diagnosed with an
Autism Spectrum Disorder
Fragile X Syndrome
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Prevalence
1 of every 2500-4000 individuals
1 in 4000 in males
1 in every 6000-8000 females
Premutation:
1 in 130-250 in females
1 in 250-810 in males
2-6% of children with Autism have FXS
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What Causes FXS
Abnormality of the fragile X mental retardation 1 (FMR1) gene
FMR1 responsible for production of fragile X mental retardation protein (FMRP)
FMRP responsible for brain development
Individuals with FXS are deficient in FMRP
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What Causes FXS Continued…
Increased Cytosine-Guanine-Guanine (CGG)
repeats accounts for the “fragile” site of the DNA
5-44 repeats = normal
45-54 repeats = grey zone
55-200 = premutation
greater than 200 = full mutation (hypermethylation of
FRM1 and decreased FMRP production)
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Fragile X Mutations & Assoc. Disorders
Fragile X Syndrome (FXS)
Fragile X associated primary ovarian
insufficiency (FXPOI)
Menopause prior to 40 years of age
Fragile X associated tremor/ataxia syndrome
(FXTAS)
Affects (mainly) males over 50 years of age
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Physical Characteristics
Associated with FXS
Loose Connective tissue Pronated ankles
Hyperextensive joints
Pes Planus
Heart murmurs
Hypotonia
Large Cupped Ears
Single palmar crease
Visual impairments
Narrow high arched palate
Scoliosis
Motor tics Larger head
circumference and pronounced forehead
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Physical Characteristics Associated
with FXS continued…
Taller, however 20-25% are significantly shorter then general population
Soft velvety skin Club foot Hallucal crease (a single crease between the
first and second toes) Pectus Excavatum
Macroorchidism
Attractive appearance
Prader Willi Subtype
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Early Developmental History
Speech Delays
Gross and Fine Motor Delays
Loose connective tissue can impact this.
Social/Emotional delays
Delayed adaptive behavior
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Behavioral Characteristics
ANXIETY/Perseverations
ADHD symptoms
Hyperactivity/Impulsivity improves in adulthood but
inattention can remain.
Autism and Autistic-like features
Depression
Speech and Language characteristics:
Echolalia
Scripting
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Behavioral Characteristics Continued…
Hand flapping
Hand biting
Stiffening, “Power Salute”
Tantrums
Gaze aversion
Difficulty relating to others
Hypervigilance
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Family History
Early onset menopause before the age of 40
Difficulty getting pregnant
Fibromyalgia
Systemic Lupus
Arthritis
Migraines
Anxiety
Schizophrenia
Depression/mood disorders
Parkinson’s/tremors
Developmental Delays/Intellectual Impairments
Autism
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Family Dynamics
Carriers/Mothers
Social Emotional
Anxiety
Depression
Guilt
“Pleasers”
Denial
Intellectual Abilities
Accessing service
Understanding of child’s
abilities
Unaffected Fathers
Coping Styles
Task oriented
Shut down
Extended Family
Blame
Denial
Siblings
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Treatment Recommendations
Early detection
Special Education
Psychological Evaluations
Speech and Language Therapy
Occupational Therapy
Behavioral Therapies
Social Skills
Counseling
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Treatment Options Continued
Parenting Courses
Ophthalmologist
Orthopedic
Dental
ENT for recurrent Otitis and Sinusitis
Cardiac
Endocrine
Genetics
Medication: Treat the symptom!
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Medications
Atypical antipsychotics
Risperidone
Abilify
Psychostimulants
Methylphenidates (demonstrate better efficacy in FXS population)
Mixed Amphetamine Salts
Alpha 2 Agonists
Clonidine
Guanfacine
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Medications Continued…
SSRI
Zoloft
Prozac
Off label medications
Minocycline (speech)
Drugs in development (Roche, Seaside, Novartis)
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Before Moving on….
Any Questions?
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School Role
Psych
Teachers SPED
GEN ED
OT
PT
APE
Speech
Social Skills
Social Emotional
Behavior
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Before determining Placement,
we determine ability
Understand the information yielded from
assessment
Achievement Scores are typically higher than
Developmentally Delayed control subjects.
Yet Overall Cognitive Scores are typically more
scattered and lower than control subjects (DD)
Cornish et al 2005
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Evaluation of abilities continued
Simultaneous learning rather than sequential.
Look at the “big picture”
Results of Direct Assessment
WJ-III
K-ABC
SB-V
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Cognitive Profile - Strengths
Long Term Memory esp. when associated with
high interest
Verbal-Visual Associations for Learning
Social awareness – facial perception
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Areas of Need
Cognitive Shifting, Sustained and Selective
Attention
Short term memory
Phonemic Awareness/Auditory Processing
Speech- linguistic processing
Syntactic & Pragmatics: Delayed or Deviant?
Visual Spatial cognition
Anxiety
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Supportive Research
“Specific areas of cognitive deficit for males include visuospatial abilities, visual–motor coordination and
short-term memory (Kemper et al., 1988; Crowe and
Hay, 1990; Freund et al., 1993).
Behaviorally, males with fragile X syndrome often exhibit
hyperactivity, autistic features, difficulties with peer
interaction, abnormal social communication, gaze
avoidance and motor stereotypies” Eliez et al 2001
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Fragile X in the Academic Environment
Triple A
Alliance
Work with the family
Attitude
The tone of the classroom, teacher, the
paraprofessionals
Approach
Initiation of relationships, interactions
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Understanding the Child in the
Classroom
“Most important variable to determine positive
outcomes of student continues to be the quality of
teacher and structure of the environment” Symons 2001
Predictability and Structure
High interest material assists with sustained attention
Facilitated Support is facilitated and not hand over
hand as anxiety is hallmark
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Learning Strategies
Structure
Structure gives a final product to promote
awareness
Active participation in Schedules
Side conversation about schedule with others to
prepare
Token board/picture schedule
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A Bit more about Structure
Reduces Anxiety
Example: the clinic drug trial days.
New skills to be embedded in familiar
activity/task
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Learning Strategies - Part Deux
High Interest Sustains attention because it is
familiar (words, sounds, visuals etc.)
More Visual Less Verbiage
Repetition
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Learning Strategies - Part Trois
Allow child to place into context rather than
create context (Closure technique)
Utilize their need for completion to teach
Visual Memory (Backward Chaining)
Modeling/Pre-teaching
Whole word reading less phonemic reading
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Learning Strategies Part Quatre
Close proximity to instruction though not central focus
(again, anxiety)
Use of Technology for expression
Behavior Plans:
Attention and Learning Behaviors
Relaxed eye gaze from instructors (consider the
approach)
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Learning Considerations
Consider inclusion in the general education
environment with minimal aide support.
Logo Reading System – Braden
Math instruction completion based
Simultaneous (dot math, patterns, matching)
Writing instruction also completion based
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Transition
Adults with Fragile X can live and work
successfully independent
Video
Struggles: Anxiety
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Sensory Integration Characteristics
Touch
Sound
Sight
Movement/
balance
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Case Study
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Questions
?
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• Berry-Kravis,E., Haggerman, R.J., Wang, L.W. (2010,July) Fragile X: leading the way for targeted treatments in autism. Neurotherapeutics. 2010 July; 7(3): 264–274. doi: 10.1016/j.nurt.2010.05.005
• Braden, Marcia (2012) Fragile X presentation for Special Education. Stramski Children’s Developmental Center
• Coffee, B., Keith, K., Albizua, I., Malone, T., Mowrey., Sherman., et al. (2009). Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. American Journal of Human Genetics, 4, 503-514.
• Emory University (2011, April 12). New clue found for Fragile X syndrome-epilepsy link. ScienceDaily. Retrieved August 2, 2011, from http://www.sciencedaily.com/releases/2011/04/110412171202.htm
• Esch, H. V. (2010, September). Clinical features and diagnosis of fragile X syndrome in children and adolescents. UpToDate Inc.. Retrieved August 2, 2011, from http://www.uptodate.com/contents/clinical-features-and-diagnosis-of-fragile-x-syndrome-in-children-and-adolescents
References
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References Continued…
• Fragile X Program. (n.d.). Miller Children's Hospital Long Beach | California. Retrieved August 2, 2011, from http://www.millerchildrenshospitallb.org/fragilex
• Hagerman, R. J., & Hagerman, P. J. (2002). Fragile X syndrome: diagnosis, treatment, and research (3rd ed.). Baltimore: Johns Hopkins University Press.
• Hersh, J., & Saul, R. (2011, April 11). Health Supervision for Children With Fragile X Syndrome . Pediatrics . Retrieved August 2, 2011, from http://pediatrics.aappublications.org/content/127/5/994.abstract?rss=1 DOI:10.1542/peds.2010-3500
• The National Fragile X Foundation. (n.d.). The National Fragile X Foundation - Fragile X Syndrome. Retrieved August 2, 2011, from http://www.fragilex.org/html/home.shtml
• Weber, J. D. (2000). Children with fragile X syndrome: a parents' guide. Bethesda, MD: Woodbine House.
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References Continued…
• Dykens Adaptive Behavior in males with fragile X syndrome 2001, Volume 1, Issue 4, Wiley
• Eliez, Blasey, Freund, Hastie and Reiss Brain anatonmy, gender and IQ in children and adolescents with fragile X syndrome 2001 Oxford Press
• Reiss AL, Freund LS, Baumgardner TL, Abrams MT, Denckla MB. Contribution of the FMR1 gene mutation to human intellectual dysfunction. Nat Genet. 1995 Nov;11(3):331–334
• Cornish, Sudhalter, Turk, 2005 Attention and Language in Fragile X Mental Retardation and Developmental Disabilities 2004 10: 11-16
• Cornish, Turk, Wilding, Sudhalter, Munir, Kooy and Hagerman Annotation: Deconstructing the attention deficit in fragile X syndrome: a developmental neuropsychological approach Journal of Child Psychology and Psychiatry 2004 45:6
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References Continued…
Symons, F. J., Clark, R. D., Roberts, J. P., & Bailey, D. B. Classroom behavior
and academic engagement of elementary school-aged boys with fragile
X. American Journal of Medical Genetics 2001 118A 115-121
Hay Does IQ decline with age in fragile X? A methodological critique American Journal of Medical Genetics 2005 51:4 358-363
Dyer-Friedman, Glaser, Hessl, Johnston, Huffman, Taylor, Wisbeck, Reiss Genetic and Environmental Influences on the Cognitive Outcomes of Children with Fragile X Syndrome Journal of American Academy of Child Adolescence and Psychiatry, 2002 41:3 2002